Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability

Hysi, Pirro G.; Valdes, Ana M.; Liu, Fan; Furlotte, Nicholas A.; Evans, David M.; Bataille, Veronique; Visconti, Alessia; Hemani, Gibran; McMahon, George; Ring, Susan M.; Smith, George Davey; Duffy, David L.; Zhu, Gu; Gordon, Scott D.; Medland, Sarah E.; Lin, Bochao D.; Willemsen, Gonneke; Hottenga, Jouke Jan; Vuckovic, Dragana; Girotto, Giorgia; Gandin, Ilaria; Sala, Cinzia; Pina Concas, Maria; Brumat, Marco; Gasparini, Paolo; Toniolo, Daniela; Cocca, Massimiliano; Robino, Antonietta; Yazar, Seyhan; Hewitt, Alex W.; Chen, Yan; Zeng, Changqing; Uitterlinden, Andre G.; Arfan Ikram, M.; Hamer, Merel A.; van Duijn, Cornelia M.; Nijsten, Tamar; Mackey, David A.; Falchi, Mario; Boomsma, Dorret I.; Martin, Nicholas G.; International Visible Trait Genetics Consortium; Hinds, David A.; Kayser, Manfred; Spector, Timothy D.

Abstract

© 2018 The Author(s). Hair color is one of the most recognizable visual traits in European populations and is under strong genetic control. Here we report the results of a genome-wide association study meta-analysis of almost 300,000 participants of European descent. We identified 123 autosomal and one X-chromosome loci significantly associated with hair color; all but 13 are novel. Collectively, single-nucleotide polymorphisms associated with hair color within these loci explain 34.6% of red hair, 24.8% of blond hair, and 26.1% of black hair heritability in the study populations. These results confirm the polygenic nature of complex phenotypes and improve our understanding of melanin pigment metabolism in humans.

Citation

Hysi, P. G., Valdes, A. M., Liu, F., Furlotte, N. A., Evans, D. M., Bataille, V., …Spector, T. D. (2018). Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability. Nature Genetics, 50(5), 652-656. https://doi.org/10.1038/s41588-018-0100-5

• Journal Article Type: Article
• Acceptance Date: Feb 15, 2018
• Online Publication Date: Apr 16, 2018
• Publication Date: Apr 16, 2018
• Deposit Date: Sep 5, 2018
• Publicly Available Date: Nov 22, 2018
• Journal: Nature Genetics
• Print ISSN: 1061-4036
• Electronic ISSN: 1546-1718
• Publisher: Nature Publishing Group
• Peer Reviewed: Peer Reviewed
• Volume: 50
• Issue: 5
• Pages: 652-656
• DOI: https://doi.org/10.1038/s41588-018-0100-5
• Public URL: https://nottingham-repository.worktribe.com/output/1127639
• Publisher URL: https://www.nature.com/articles/s41588-018-0100-5
• PMID: 29662168